Thursday, September 24, 2015

Interesting stuff alert! We heard from TGen that this scientist is interested in doing a mouse model on Katie's mutation at some point - hopefully we are talking sooner than later. In my generic terms: he will get some mice, somehow make them have her same exact mutation - and see what they do. I am sure there is much more to it, but this is my unscientific BA of Psych explanation.

Will these mice walk like a drunken sailor? Maybe they will drool a little bit and need tiny bibs. Will they sleep with their mouths open and have GI issues?

I hope they will show some signs of Katie's issues. I don't know how long it takes to get this started, he might need a grant - but I love that Katie will have some mice who can relate!

Friday, September 18, 2015

Paul and I recently had a great vacation in Maui. On the flight all I could think of was how hard this long flight would be with Katie. What I would give to get her to faraway places... that would be fun. However, I must say it was really nice to read a book on a flight for once!

Katie on a flight to Denver is not too bad, we only do it once a year though. Much longer than an hour and a half flight might be tough. We could probably go by plane to see some mountain views in San Francisco, or even make it to Portland thanks to this data era of ipads etc... but I really would love to get her to Hawaii or NYC, or Florida. Probably not happening anytime soon.

Katie gets a case of CMS (Constant Mental Stimulation) on airplanes, in doctors offices, basically any waiting room. Ok, I just made up that acronym, but I think you get my idea, yes? On the plane we go from the iPad to a sticker book to ripping up the flight brochures to looking at the dogs in the dog beds in SkyMall magazine... and over again. It's exhausting! I wish I was 30 again I'd have more energy - actually she is pretty good because I keep her busy, but these flights drain me.

If you see an active kid on a plane please be nice, she may be mine - if the mom is covered in stickers then she is definitely mine.

Tuesday, September 15, 2015

Katie got a wheelchair to be used mainly for distances at school, on field trips etc... We are still working on walking and that is the main goal. She would get tired at school walking to the field to have P.E. so this wheelchair will come in handy. Below is a video of Katie's first time in it. Amazingly she seemed to know what to do. She got mad when I took her out of it!

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Katie's Story!

Read our story on the ViaCord website - click on the picture above

welcome to my blog!

Our daughter Katie, underwent a cord blood transfusion at Duke Medical Center in early January 2010. It was her own (umbilical) cord blood which we had saved at birth through a company called ViaCord. Not really thinking we would ever have a need for it, we were absolutely THRILLED at the thought that her own cord blood might be able to change her life, and help her to progress faster.

We are very hopeful that this procedure will help Katie to progress faster in overcoming her many physical delays. Mentally she seems to be fine, able to understand, and tries to communicate, but her physical delays hold her back.

What is expected is that the stem cells in the cord blood will repair or replace any damaged cells, or form new connections anywhere in her body that needs it. We were told not to expect much for at least 6 months - that most parents report a jumpstart in therapies at about that time. However, there are those families I have seen on youtube or the news who have incredible results - some even right away, and I can only be hopeful that we will have a similar experience. After all, I am her mom!

I believe that with the help of Katie's therapists, caregivers, and family, that I will be able to objectively sort out any milestones or changes that may be due to the stem cell transfusion, and that is what this blog is all about!

04/20/16 Katie has been diagnosed with a very rare gene mutation on the gene GRIK2. TGen is who found this gene mutation and put us in touch with a scientist at Northwestern University who is doing further research on Katie, specifically. So awesome!

about Katie

Katie was diagnosed with hypotonia at age 1, which is basically weak muscles, not really a true "diagnosis". We have no idea why she has this, but it delays her in many areas such as crawling, sitting, walking, talking, and fine motor skills. Katie is now 10 years old and she started walking about 4 years ago but still unsteady. Her coordination and balance are something we are constantly working on.
She did wear glasses from ages 2-4 and then her vision improved and she doesn't need them anymore, which is so great! Getting glasses on her was not easy - had to come from behind and put them over her head that way. It's nice not to have to worry about getting the glasses on her any more!
Katie can totally understand what you say, nods her head for "yes", has a few signs (for "more" and "me") but still is not able to talk much at all. Maybe a few words.
Katie is a work in progress!